Author
Beth Israel Deaconess Medical CenterORCID 0009-0009-9721-557XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Eleanor G. Seaby, Gary Leggatt, Guo Cheng…·Magdalena Zarowiecki
GenePy identifies potential missed biallelic diagnoses in the 100KGP by scoring variants and analyzing phenotypic overlaps, finding 14% of undiagnosed participants may have a missed diagnosis.
Prima Sanjaya, Katri Maljanen, Riku Katainen…·Esa Pitkänen
The paper introduces MuAt, a deep learning model that learns representations of somatic mutations to predict tumour types and subtypes with high accuracy.
Eric Gregory Olinger, Céline Schaeffer, Kendrah O. Kidd…·Magdalena Zarowiecki
The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.